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Stxbp1 syntaxin binding protein 1 [ Mus musculus (house mouse) ]

Gene ID: 20910, updated on 26-Sep-2022

Summary

Official Symbol
Stxbp1provided by MGI
Official Full Name
syntaxin binding protein 1provided by MGI
Primary source
MGI:MGI:107363
See related
Ensembl:ENSMUSG00000026797 AllianceGenome:MGI:107363
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ms10g; nsec1; N-sec1; Sxtbp1; Unc18h; MMS10-G; Rb-sec1; Unc18-1; Munc-18a; Munc18-1
Summary
Enables syntaxin-1 binding activity. Involved in presynaptic dense core vesicle exocytosis and synaptic vesicle priming. Acts upstream of or within several processes, including axon target recognition; chemical synaptic transmission; and negative regulation of synaptic transmission. Located in several cellular components, including glutamatergic synapse; phagocytic vesicle; and presynaptic active zone membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and sensory organ. Human ortholog(s) of this gene implicated in West syndrome and developmental and epileptic encephalopathy 4. Orthologous to human STXBP1 (syntaxin binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in cerebellum adult (RPKM 216.7), cortex adult (RPKM 165.3) and 6 other tissues See more
Orthologs
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Genomic context

See Stxbp1 in Genome Data Viewer
Location:
2 B; 2 22.09 cM
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (32677619..32737249, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (32787607..32847237, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 16 Neighboring gene torsin family 2, member A Neighboring gene cilia and flagella associated protein 157 Neighboring gene peptidyl-tRNA hydrolase 1 homolog Neighboring gene predicted gene, 24165 Neighboring gene predicted gene 13524 Neighboring gene small nucleolar RNA SNORA76 Neighboring gene predicted gene 13523 Neighboring gene niban apoptosis regulator 2

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables SNARE binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables phospholipase binding ISO
Inferred from Sequence Orthology
more info
 
enables protein N-terminus binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
 
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
 
enables syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables syntaxin binding ISO
Inferred from Sequence Orthology
more info
 
enables syntaxin-1 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables syntaxin-1 binding IDA
Inferred from Direct Assay
more info
PubMed 
enables syntaxin-1 binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables syntaxin-1 binding ISO
Inferred from Sequence Orthology
more info
PubMed 
Process Evidence Code Pubs
involved_in SNARE complex assembly ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within axon target recognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cellular response to type II interferon IDA
Inferred from Direct Assay
more info
PubMed 
involved_in developmental process involved in reproduction ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within establishment of localization in cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within long-term synaptic depression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of synaptic transmission, GABAergic IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within neuromuscular synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neurotransmitter secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within neurotransmitter secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in platelet aggregation ISO
Inferred from Sequence Orthology
more info
 
involved_in platelet degranulation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of calcium ion-dependent exocytosis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of exocytosis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of glutamate secretion, neurotransmission ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of mast cell degranulation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of vesicle docking ISO
Inferred from Sequence Orthology
more info
 
involved_in presynaptic dense core vesicle exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to plasma membrane ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein stabilization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of acrosomal vesicle exocytosis ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of synaptic vesicle priming ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of vesicle fusion ISO
Inferred from Sequence Orthology
more info
 
involved_in synaptic vesicle fusion to presynaptic active zone membrane TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within synaptic vesicle maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in synaptic vesicle priming IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synaptic vesicle priming IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vesicle docking involved in exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within vesicle docking involved in exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vesicle docking involved in exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
located_in axon ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
is_active_in extrinsic component of presynaptic membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in extrinsic component of presynaptic membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion HDA PubMed 
located_in myelin sheath HDA PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
is_active_in parallel fiber to Purkinje cell synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in phagocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in platelet alpha granule ISO
Inferred from Sequence Orthology
more info
 
located_in postsynapse ISO
Inferred from Sequence Orthology
more info
 
located_in presynapse ISO
Inferred from Sequence Orthology
more info
 
is_active_in presynaptic active zone cytoplasmic component IDA
Inferred from Direct Assay
more info
PubMed 
located_in presynaptic active zone membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in presynaptic cytosol IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in presynaptic cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
is_active_in secretory granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
syntaxin-binding protein 1
Names
UNC-18 homolog
minisatellite 10g detected by probe MMS10
protein unc-18 homolog 1
protein unc-18 homolog A
unc-18-1
unc-18A

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001113569.1NP_001107041.1  syntaxin-binding protein 1 isoform a

    See identical proteins and their annotated locations for NP_001107041.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK004780, BB852672, BC031728
    Consensus CDS
    CCDS50572.1
    UniProtKB/Swiss-Prot
    O08599
    UniProtKB/TrEMBL
    A0A8C6GSX0
    Related
    ENSMUSP00000089051.4, ENSMUST00000077458.7
    Conserved Domains (1) summary
    pfam00995
    Location:29575
    Sec1; Sec1 family
  2. NM_009295.2NP_033321.2  syntaxin-binding protein 1 isoform b

    See identical proteins and their annotated locations for NP_033321.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the coding region, (compared to variant 1), which results in a frameshift. The resulting isoform (b) has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AF326563, AK004780, BB852672, BC031728
    Consensus CDS
    CCDS15933.1
    UniProtKB/Swiss-Prot
    O08599, Q8VD51
    UniProtKB/TrEMBL
    A0A8C6GU69
    Related
    ENSMUSP00000052440.10, ENSMUST00000050000.16
    Conserved Domains (1) summary
    pfam00995
    Location:29575
    Sec1; Sec1 family

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    32677619..32737249 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)